| Symbol |
Name |
|
ABHD12
|
abhydrolase domain containing 12
|
|
ALS2
|
amyotrophic lateral sclerosis 2 (juvenile)
|
|
AMER1
|
APC membrane recruitment protein 1
|
|
BAG3
|
BCL2-associated athanogene 3
|
|
BCOR
|
BCL6 corepressor
|
|
BICD2
|
bicaudal D homolog 2 (Drosophila)
|
|
C19ORF12
|
chromosome 19 open reading frame 12
|
|
CAV1
|
caveolin 1, caveolae protein, 22kDa
|
|
CCR6
|
chemokine (C-C motif) receptor 6
|
|
CHRNG
|
cholinergic receptor, nicotinic, gamma (muscle)
|
|
COL2A1
|
collagen, type II, alpha 1
|
|
COL6A1
|
collagen, type VI, alpha 1
|
|
COL6A2
|
collagen, type VI, alpha 2
|
|
COL6A3
|
collagen, type VI, alpha 3
|
|
CPT2
|
carnitine palmitoyltransferase 2
|
|
CTGF
|
connective tissue growth factor
|
|
DAG1
|
dystroglycan 1 (dystrophin-associated glycoprotein 1)
|
|
DDR2
|
discoidin domain receptor tyrosine kinase 2
|
|
DPM1
|
dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
|
|
EMD
|
emerin
|
|
ERCC1
|
excision repair cross-complementation group 1
|
|
ERCC6
|
excision repair cross-complementation group 6
|
|
ESCO2
|
establishment of sister chromatid cohesion N-acetyltransferase 2
|
|
FBN1
|
fibrillin 1
|
|
FBN2
|
fibrillin 2
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FIG4
|
FIG4 phosphoinositide 5-phosphatase
|
|
FKRP
|
fukutin related protein
|
|
FLNA
|
filamin A, alpha
|
|
GJB1
|
gap junction protein, beta 1, 32kDa
|
|
GJB2
|
gap junction protein, beta 2, 26kDa
|
|
GLI3
|
GLI family zinc finger 3
|
|
HLA-DRB1
|
major histocompatibility complex, class II, DR beta 1
|
|
HRAS
|
Harvey rat sarcoma viral oncogene homolog
|
|
HSPG2
|
heparan sulfate proteoglycan 2
|
|
IRF5
|
interferon regulatory factor 5
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
KIAA0319L
|
KIAA0319-like
|
|
LARGE
|
like-glycosyltransferase
|
|
LIFR
|
leukemia inhibitory factor receptor alpha
|
|
LMNA
|
lamin A/C
|
|
MMP2
|
matrix metallopeptidase 2
|
|
MYBPC1
|
myosin binding protein C, slow type
|
|
MYH3
|
myosin, heavy chain 3, skeletal muscle, embryonic
|
|
MYOT
|
myotilin
|
|
NOD2
|
nucleotide-binding oligomerization domain containing 2
|
|
NSUN2
|
NOP2/Sun RNA methyltransferase family, member 2
|
|
PEX7
|
peroxisomal biogenesis factor 7
|
|
PHF6
|
PHD finger protein 6
|
|
PHYH
|
phytanoyl-CoA 2-hydroxylase
|
|
PIEZO2
|
piezo-type mechanosensitive ion channel component 2
|
|
PIK3R2
|
phosphoinositide-3-kinase, regulatory subunit 2 (beta)
|
|
PLOD2
|
procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
|
|
PSMB8
|
proteasome (prosome, macropain) subunit, beta type, 8
|
|
PTDSS1
|
phosphatidylserine synthase 1
|
|
PTH1R
|
parathyroid hormone 1 receptor
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
SALL1
|
spalt-like transcription factor 1
|
|
SCARF2
|
scavenger receptor class F, member 2
|
|
SKI
|
SKI proto-oncogene
|
|
SLC25A19
|
solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
|
|
SLC26A2
|
solute carrier family 26 (anion exchanger), member 2
|
|
SPEG
|
SPEG complex locus
|
|
SRD5A3
|
steroid 5 alpha-reductase 3
|
|
TBX2
|
T-box 2
|
|
TBX4
|
T-box 4
|
|
TNNT1
|
troponin T type 1 (skeletal, slow)
|
|
TPM2
|
tropomyosin 2 (beta)
|
|
TRPV4
|
transient receptor potential cation channel, subfamily V, member 4
|
|
ZBTB20
|
zinc finger and BTB domain containing 20
|
|
ZC4H2
|
zinc finger, C4H2 domain containing
|
